Jejunal Amyloidosis: A Rare Cause of Severe Gastrointestinal Bleeding

Abstract

1Department of Medicine; 2Division of Pathology; 3Division of Gastroenterology, University of British Columbia, Royal Columbian Hospital, New Westminster, British Columbia Correspondence: Dr Justin Cheung, Department of Gastroenterology, Royal Columbian Hospital, 410-301 East Columbia Street, New Westminster, British Columbia V3L 3W5. Telephone 604-525-0155, fax 604-525-1699, e-mail justa48@hotmail.com Received for publication December 22, 2011. Accepted December 29, 2011 CASE PRESENTATION An 81-year-old Jamaican woman presented with melena and severe anemia, and a hemoglobin level of 47 g/L (normal range 115 g/L to 160 g/L). A gastroscopy and colonoscopy were negative for any lesions. Duodenal biopsies were normal. A subsequent computed tomography scan of the abdomen with contrast showed diffuse thickening from the jejunum to the distal small bowel and a small area of active bleeding in the mid small bowel. A technetium-99m red blood cell scan demonstrated active bleeding in the proximal jejunum. Push enteroscopy (120 cm to 150 cm below incisor) revealed mild diffuse friability starting from the proximal jejunum, as well as erosions, nodularities, polypoid protrusions and valvulae conniventes thickening in the remaining jejunum (Figures 1A and 1B). Jejunal biopsies showed extensive amyloid deposition in the lamina propria and submucosa, with Congo red stain demonstrating apple-green birefringence under polarized light (Figure 2), and hematoxylin counterstain revealing amorphous, salmon-pink, sparsely cellular hyaline material (Figure 3). Serum protein electrophoresis, immunofixation and a serum-free light chain assay confirmed the presence of monoclonal immunoglobulin G lambda paraprotein. The patient was transfused with packed red blood cells as needed (average one unit per day), and treated with bortezomib and dexamethasone for primary amyloidosis. By day 17 of hospitalization, the bleeding had resolved and the patient was subsequently discharged without any further bleeding episodes. DISCUSSION Amyloidosis is a multisystem disease characterized by extracellular deposition of abnormal protein fibrils in various tissues and organs. The protein fibrils are derived from monoclonal immunoglobulin light chains in primary amyloidosis (AL), acute phase reactant serum amyloid A in secondary amyloidosis (AA), and beta2-microglobulin in dialysis-related amyloidosis (Ab2m). Clinical manifestations in amyloidosis are variable, but the heart and kidneys are most commonly involved. Gastrointestinal symptoms due to bleeding, dysmotility and malabsorption are present in up to 60% of AA (1), but in only 1% of AL (2). The diagnosis of amyloidosis can only be confirmed by tissue biopsy because endoscopic and radiologic findings are nonspecific. Therapy is directed at the underlying cause in AL (plasma cell dyscrasia) and AA (infection, inflammation and malignancy), whereas treatment in Ab2m involves alteration of dialysis mode or consideration of renal transplantation (3). Severe gastrointestinal bleeding rarely occurs as the sole or initial manifestation of systemic amyloidosis (4). Mechanisms by which hemorrhage occurs in gastrointestinal amyloidosis have been postulated, including intestinal ischemia, necrotic ulceration, mucosal tearing, vascular fragility, abnormal platelet aggregation, and factor IX and X deficiencies (5,6). In addition to supportive care for bleeding, treatment must be tailored to the specific type of amyloidosis, as determined by endoscopy and histology. Endoscopy classically shows polypoid protrusions and valvulae conniventes thickening in AL; a imAge of the month